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目的对河北涿州、高碑店地区重度耳聋患者进行分子流行病学调查,了解耳聋的常见分子病因。方法对河北涿州、高碑店市特殊教育学校64名耳聋学生进行遗传性耳聋问卷调查、全面的体格检查、耳鼻咽喉专科检查以及听力学评估(包括纯音测听和声导抗)。对64名非综合征型感音神经性耳聋患者分别进行GJB2基因235delC突变、线粒体DNA 12SrRNA基因A1555G点突变的限制性内切酶分析。应用直接测序法检测SLC26A4基因IVS7-2A>G突变。结果7例(10.93%)携带GJB2基因235delC纯合突变;9例(14.06%)携带GJB2基因235delC杂合突变;6例(9.37%)携带SLC26A4基因IVS7-2A>G纯合突变,12例(18.75%)携带SLC26A4基因IVS7-2A>G杂合突变;未发现携带线粒体DNA 12SrRNA基因A1555G点突变者。结论河北涿州、高碑店地区非综合征型耳聋患者存在较高的GJB2基因235delC和SLC26A4基因IVS7-2A>G突变发生率,而线粒体DNA 12SrRNA基因A1555G突变发生率低于全国平均水平。聋病分子流行病学调查提示河北涿州、高碑店地区20.3%的非综合征型耳聋患者在分子水平能够明确诊断,另有32.81%的患者有遗传倾向。进行准确的耳聋早期诊断、遗传咨询、及时干预和治疗在这一地区的聋哑人群中非常重要。
Objective To investigate the molecular epidemiology of patients with severe deafness in Danzhou and Gaobeidian, Hebei Province, and to understand the common molecular causes of deafness. Methods A total of 64 deafness students in special education school in Danzhou and Gaobeidian of Hebei Province were investigated with hereditary deafness questionnaire, comprehensive physical examination, special examination of otolaryngology and audiology assessment (including pure tone audiometry and acoustic guidance). Sixty-four non-syndromic sensorineural hearing loss patients were subjected to restriction endonuclease analysis of GJB2 gene 235delC mutation and mitochondrial DNA 12SrRNA gene A1555G point mutation. The SLC26A4 gene IVS7-2A> G mutation was detected by direct sequencing. Results 7 cases (10.93%) carried 235delC homozygous mutation of GJB2 gene, 9 cases (14.06%) carried heterozygous 235delC mutation of GJB2 gene, 6 cases (9.37%) carried IVS7-2A> G homozygous mutation of SLC26A4 gene, 12 cases 18.75%) carried SLC26A4 gene IVS7-2A> G heterozygous mutation; no mitochondrial DNA 12SrRNA gene A1555G point mutation was found. Conclusion The prevalence of IVS7-2A> G mutation of 235delC and SLC26A4 genes in GJB2 gene is higher in non-syndromic deafness patients in Danzhou and Gaobeidian Hebei Provinces, while the incidence of mitochondrial DNA 12SrRNA A1555G mutation is lower than the national average. The molecular epidemiological investigation of deafness suggests that 20.3% of non-syndromic deafness patients in Danzhou and Gaobeidian areas in Hebei Province can make a definite diagnosis at the molecular level, and another 32.81% of them have genetic predisposition. Accurate diagnosis of deafness, genetic counseling, timely intervention and treatment of deaf people in this area is very important.